Pallister-Hall Syndrome Causes & Reasons

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Possible Causes

Pallister-Hall Syndrome

Polydactyly PALLISTER-HALL SYNDROME Ano-cerebro-digital Syndrome Pallister Hall syndrome PHS PALLISTER-HALL SYNDROME; PHS Hypothalamic hamartoblastoma syndrome A syndrome [wikidata.org]

Pallister–Hall syndrome at NLM Genetics Home Reference GeneReviews/NCBI/NIH/UW entry on Pallister–Hall Syndrome Genetics Home Reference [en.wikipedia.org]

Pallister-Hall syndrome, firstly described 40 years ago, is an extremely rare genetic disorder. [symptoma.com]

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Hypothalamic Hamartoma

We describe a unique patient in whom magnetic resonance imaging of the fetal brain allowed a prenatal diagnosis of Pallister-Hall syndrome. [ncbi.nlm.nih.gov]

Pallister-Hall syndrome (PHS) is a very rare syndrome characterized by hypothalamic hamartoma (HH), polydactyly, panhypopituitarism, imperforate anus and other visceral anomalies [ncbi.nlm.nih.gov]

We describe a male infant with Pallister-Hall syndrome who had a large HH presenting with infantile spasms without hypsarrhythmia. [(18)F]fluoro-deoxyglucose positron emission [ncbi.nlm.nih.gov]

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Pallister W Syndrome

Overview What is Pallister-Hall syndrome? Pallister-Hall syndrome is an inherited condition that can affect different parts of the body. [thinkgenetic.com]

Diagnosis - Pallister-Hall syndrome Both clinical examination and family history are used to diagnose Pallister-Hall syndrome. [checkorphan.org]

Mutations in the GLI3 gene cause Pallister–Hall syndrome. [en.wikipedia.org]

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Laryngo-Tracheo-Esophageal Cleft

The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome. [ncbi.nlm.nih.gov]

The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome (see these terms). [orpha.net]

G-syndrome and Pallister Hall Syndrome, may be associated with LTEC (10). [pediatriconcall.com]

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Central Polydactyly of Fingers

There are certain types of polydactyly that are typically seen in Pallister-Hall syndrome. These include: Mesoaxial (insertional or central) polydactyly. [thinkgenetic.com]

GLI3 related disorders - Greig cephalopolysyndactyly syndrome ( GCPS ; MIM 175700), Pallister-Hall syndrome ( PHS : MIM 146510), polydactyly, postaxial, type A1 ( PAPA1 ; [ctgt.net]

2 oral-facial-digital syndromes oral-facial-digital syndrome (OFDS) type II - Mohr syndrome : post-axial oral-facial-digital syndrome (OFDS) type VI : post-axial 4 Pallister-Hall [radiopaedia.org]

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Pfeiffer-Palm-Teller Syndrome

Palizaeus-Merzbacher syndrome (infantile type) info... Pallister-Hall syndrome info... Pallister-Killian syndrome info... Pallister's mosaicism syndrome info... [mt911.com]

[…] of Pallister-hall, syndrome of Pallister-Killian, syndrome of Pallister W, syndrome of Micrometer caliper pagon syndrome of Palmitoyl-protein thioestérase, deficit in Additional [wikipedia.qwika.com]

Pagon Stephan syndrome Pai Levkoff syndrome Palant cleft palate syndrome Palindromic rheumatism Pallister-Hall syndrome Pallister-Killian syndrome Palmer Pagon syndrome Palmitoyl-protein [bioreference.net]

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Central Polydactyly of Toes

There are certain types of polydactyly that are typically seen in Pallister-Hall syndrome. These include: Mesoaxial (insertional or central) polydactyly. [thinkgenetic.com]

Joubert-Boltshauser syndrome, Laurin-Sandrow syndrome, McKusick-Kaufman syndrome, mirror hand deformity (ulnar dimelia), Mohr syndrome, oral-facial-digital syndrome, Pallister-Hall [clinicaladvisor.com]

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Curry Hall Syndrome

Mutations in the GLI3 gene cause Pallister-Hall syndrome. [ghr.nlm.nih.gov]

Mutations in the GLI3 gene cause Pallister–Hall syndrome. [en.wikipedia.org]

PMID 16531732 Gonadal mosaicism in severe Pallister-Hall syndrome. [atlasgeneticsoncology.org]

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Hamartoma

Pallister-Hall syndrome (PHS) is a rare malformative disorder that is due to truncating functional repressor mutations in GLI3. [ncbi.nlm.nih.gov]

Causes Sporadic (95%) Pallister-Hall syndrome (5%) PALLISTER HALL SYNDROME This syndrome includes polydactyly, a bifid epiglottis, dysplastic nails, imperforate anus, kidney [epilepsydiagnosis.org]

Pallister-Hall syndrome, for example, is a genetic condition that can present with deformities of the hands and feet and other anatomical anomalies, including hypothalamic [chop.edu]

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Prata-Libéral-Gonçalves Syndrome

Pagon Bird Detter syndrome[?] Pagon Stephan syndrome[?] Pai Levkoff syndrome[?] Palant cleft palate syndrome[?] Palindromic rheumatism[?] Pallister-Hall syndrome[?] [encyclopedia.kids.net.au]

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Polydactyly

These four entities are: the preaxial polydactyly type IV-Greig-acrocallosal spectrum, postaxial polydactyly types A/B, Pallister-Hall syndrome (PHS), and oral-facial-digital [ncbi.nlm.nih.gov]

91% of patients with Pallister-Hall syndrome. [ncbi.nlm.nih.gov]

The differential diagnostic list of disorders causing hexadactyly includes a number of conditions including Pallister-Hall syndrome and Greig syndrome Hexadactyly is the most [medicinenet.com]

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Adult Krabbe Disease

Pallister-Hall syndrome Pallister-Killian syndrome (tetrasomy 12p, Teschler-Nicola syndrome) Periodic paralysis Phenylketonuria (PKU) Polycystic kidney disease Popliteal [kumc.edu]

Opitz syndromes [Opitz-Frias, Opitz FG (Opitz-Kaveggia), Opitz-C (Trigonocephaly)] Organic acidemias Osler-Weber-Rendu syndrome Osteogenesis imperfecta Oxalosis & hyperoxaluria [kumc.edu]

[…] neuro-metabolic, neurogenetics, neuromuscular, CADASIL, Huntington disease, other) Neurofibromatosis (von Recklinghausen) Neuromuscular conditions Niemann-Pick disease Noonan syndrome [kumc.edu]

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Polydactyly of a Biphalangeal Thumb

Human GLI3 gene mutations have been identified in several phenotypes of digital abnormality such as Greig cephalopolysyndactyly syndrome, Pallister–Hall syndrome, preaxial [ingentaconnect.com]

Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and [diki.pl]

Pachygyria-intellectual disability-epilepsy syndrome Pacman dysplasia Pai syndrome Pallister-Hall syndrome Pancreatic insufficiency-anemia-hyperostosis syndrome Panner disease [se-atlas.de]

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Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

[…] cleft Orofaciodigital syndrome Osteoglophonic dysplasia Otofaciocervical syndrome Otospondylomegaepiphyseal dysplasia Pallister-Hall syndrome Papillorenal syndrome Parietal [qlinics.com]

GLI2 Culler-Jones syndrome GLI3 Acrocallosal syndrome, Grieg cephalopolysndactyly syndrome, Pallister-Hall syndrome, Postaxial polydactyly type A, Preaxial polydactyly type [genda.com.ar]

syndrome EYA1 Otospondylomegaepiphyseal dysplasia COL2A1 Otospondylomegaepiphyseal dysplasia COL11A2 Pallister-Hall syndrome GLI3 Papillorenal syndrome PAX2 Parietal foramina [centogene.com]

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Polysyndactyly

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. [indianpediatrics.net]

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet. 1997;15:266–8. [rarediseases.org]

The disorder is allelic to the Pallister-Hall syndrome and one form of the acrocallosal syndrome. [ojrd.biomedcentral.com]

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Patterson Pseudoleprechaunism Syndrome

Pagon–Stephan syndrome Pai–Levkoff syndrome Palant cleft palate syndrome Palindromic rheumatism Pallister–Hall syndrome Pallister–Killian syndrome Palmer–Pagon syndrome Palmitoyl-protein [ipfs.io]

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Pseudoaminopterin Syndrome

Syndrome 1 Pallister-Hall Syndrome Pallister-Killian Syndrome Palmar And Plantar Keratosis And Keratitis Papillon-Léage And Psaume Syndrome Paralysis Spinalis Spastica Paramethadione [neo-genetics.com]

Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome Lethal Multiple Pterygium Syndrome Neu-Laxova Syndrome Restrictive Dermopathy Meckel-Gruber Syndrome Pallister-Hall Syndrome X-Linked [geneeskundeboek.nl]

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Imperforate Anus

Hirschprung's disease and imperforate anus are described concurrently in a newborn with Pallister-Hall syndrome as well as the difficulties in making this diagnosis. [ncbi.nlm.nih.gov]

Pallister-Hall syndrome is a complex malformation syndrome characterized by a wide range of anomalies including hypothalamic hamartoma, polydactyly, bifid epiglottis, and [ncbi.nlm.nih.gov]

syndrome, McKusick–Kaufman syndrome, Pallister–Hall syndrome, short rib–polydactyly syndrome type 1, Townes–Brocks syndrome, 13q deletion syndrome, urorectal septum malformation [en.wikipedia.org]

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Oculo-Palato-Cerebral Syndrome

type II Otocephalic syndrome Otospondylomegaepiphyseal dysplasia Pallister-Hall syndrome Papillon-Lef Parasitic monster Pena-Shokeir phenotype Pentalogy of Cantrell PIBIDS [emedcodes.com]

Otospondylomegaepiphyseal dysplasia Pallister-Hall syndrome Panhypopituitarism Parastremmatic dwarfism Progeria-short stature-pigmented nevi syndrome Progressive pseudorheumatoid [se-atlas.de]

syndrome, type II Otospondylomegaepiphyseal dysplasia Pallister-Hall syndrome Papillon-Lef vre syndrome Parasitic monster Pena-Shokeir phenotype Pentalogy of Cantrell PIBIDS [icd9data.com]

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X-Linked Mandibulofacial Dysostosis

type IIA 193510 AD wide nasal bridge, short philtrum, cleft lip or palate, deafness Pallister-Hall syndrome 146510 AD short nose, flat nasal bridge, multiple buccal frenula [widesmiles2.org]

[…] and/or carious teeth, cleft lip and palate, ectopic calcification of falx cerebri TF Microphthalmia-associated transcription factor MITF 3p14.1-p12.3 156845 Waardenburg syndrome [widesmiles2.org]

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Dyschondrosteosis-Nephritis Syndrome

syndrome 1 Osteopetrosis autosomal recessive 3 PAGOD syndrome Pallister-Hall syndrome Papillary renal cell carcinoma Partial androgen insensitivity syndrome Perlman syndrome [rarediseases.info.nih.gov]

SERPINF1, CRTAP, LEPRE1, FKBP10 Pachyonychia Congenita KRT6A Pallister-Hall syndrome GLI3 Parkinson disease, juvenile, type 2 PARK2 PDGFC_Research PDGFC Pelizäus Merzbacher [meduniwien.ac.at]

Type I and II Ovotesticular Disorder of Sex Development Pachydermoperiostosis Pachyonychia Congenita Paget's Disease Paget's Disease of the Breast Pallister Hall Syndrome [arrayit.com]

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Mohr Syndrome

[…] cleft palate and postaxial polysyndactyly syndromes (polydactyly-cleft palate association) Pallister-Hall syndrome Rutledge lethal multiple congenital anomaly syndrome ( Smith-Lemli-Opitz [humpath.com]

13] Mohr syndrome Oral-facial-digital syndrome Pallister-Hall syndrome Rubinstein-Taybi syndrome Short rib polydactyly VATER association (vertebral [defects], [imperforate [emedicine.medscape.com]

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Syndactyly

Mutations in GLI3 have been shown to cause Greig cephalopolysyndactyly, Pallister-Hall syndrome and non-syndromic polydactyly. [ncbi.nlm.nih.gov]

Pallister-Hall syndrome Poland syndrome proximal radioulnar synostoses: Cenani Lenz syndactyly prune belly syndrome Roberts syndrome VACTERL association Down syndrome 10 [radiopaedia.org]

[…] type V: Pfeiffer syndrome acrocephalopolysyndactylies type I: Noack syndrome type II: Carpenter syndrome : typically gives soft tissue syndactyly type III: Sakati-Nyhan syndrome [radiopaedia.org]

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Hamartoma of the Central Nervous System

Pallister-Hall Syndrome Pallister-Hall syndrome is a less common genetic disorder that affects the development of many parts of the body. [hopeforhh.org]

Although an association with Pallister-Hall syndrome has been described, in general, hypothalamic hamartomas are isolated lesions 5. [radiopaedia.org]

HHs may sometimes be associated with symptoms of Pallister-Hall syndrome More Details. [ijem.in]

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Congenitally Uncorrected Transposition of the Great Arteries

Disease Type of connection Double outlet right ventricle Situs ambiguus Acrocallosal syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly, [csbg.cnb.csic.es]

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Adactyly of Foot

Pallister-Hall syndrome: clinical and MR features. Am J Neuroradiol 1999;20:1839-1841. [ Links ] 12. Grebe TA, Clericuzio C. [scielo.br]

[from HPO ] Pallister-Hall syndrome MedGen UID: 120514 • Concept ID: C0265220 • Disease or Syndrome Pallister-Hall syndrome (referred to as PHS in this entry) is characterized [ncbi.nlm.nih.gov]

Pallister-Hall syndrome, Preaxial polydactyly 4 Pathogenic (Jul 3, 2016) criteria provided, single submitter GRCh37: Chr9:86590455 GRCh38: Chr9:83975540 HNRNPK AU-KLINE [ncbi.nlm.nih.gov]

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Oculootoradial Syndrome

[…] types VATER association (VACTERL association) Fanconi disease (Fanconi syndrome or Fanconi anemia) Pallister-Hall syndrome Cateye syndrome Duane anomaly with thenar hypoplasia [humpath.com]

Palant Cleft Palate Syndrome palindromic rheumatism Pallister Killian Syndrome Pallister W Syndrome Pallister-Hall syndrome Palmer Pagon Syndrome Pancoast tumor Parana Hard [rgd.mcw.edu]

Painful congenital myotonia Painful myotonia PAIS Palatodigital syndrome, Catel-Manzke type Pallidopyramidal syndrome Pallister-Hall syndrome Palmoplantar and periorificial [csbg.cnb.csic.es]

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Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

[…] type 2 Neutrophil immunodeficiency syndrome Pallister-Hall syndrome Polysyndactyly, bilateral Polysyndactyly, unilateral Postaxial polydactyly type A, bilateral Postaxial [csbg.cnb.csic.es]

(multiple types) Postaxial polydactyly Triphalangeal thumb Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Synpolydactyly Townes-Brocks syndrome Lacrimo-auriculo-dento-digital [emedicine.medscape.com]

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Acrootoocular Syndrome

Oto-Palato-Digital Syndrome Type l-ll Pachygyria Pachygyria Pallister Mosaic syndrome Pallister-Hall syndrome Pelizaeus-Merzbacher Disease Pendred's syndrome Periventricular [de.slideshare.net]

[…] phenotype, J Med Genet, 2000, vol. 37 (pg. 458 - 460 ) 27 Pallister–Hall syndrome: clinical and MR features, Am J Neuroradiol, 1999, vol. 20 (pg. 1839 - 1841 ) 28 Pallister–Hall [academic.oup.com]

[…] by FOXL2 mutations – Neu-Laxova syndrome 1: PHGDH mutation – Pallister-Hall syndrome: GLI3 mutation – Galloway-Mowat syndrome: WDR73 gene mutation. – Band-like calcification [bredagenetics.com]

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Tricho-Retino-Dento-Digital Syndrome

type II Otocephalic syndrome Otospondylomegaepiphyseal dysplasia Pallister-Hall syndrome Papillon-Lef Parasitic monster Pena-Shokeir phenotype Pentalogy of Cantrell PIBIDS [emedcodes.com]

syndrome, type II Otospondylomegaepiphyseal dysplasia Pallister-Hall syndrome Papillon-Lef vre syndrome Parasitic monster Pena-Shokeir phenotype Pentalogy of Cantrell PIBIDS [icd9data.com]

Oromandibular-limb hypogenesis spectrum Osteochondrodysplasia with osteopetrosis Oto-onycho-peroneal syndrome Oto-palato-digital syndrome, type I Oto-palato-digital syndrome [emedcodes.com]

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